Global Variome shared LOVD

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Phenotype #0000304950 Individual ID 00412964 Associated disease DEE Diagnosis/Initial Ohtahara syndrome Diagnosis/Definite DEE17 Phenotype details 2w-series of tonic seizures (resemble spasms); 2w-suppression-burst pattern; 10m-tonic seizure; EEG 4m-hypsarrhythmia; dystonia; seizure control intractable; no head control; not sitting; no speech; MRI 3m-normal Inheritance Isolated (sporadic) Age/Examination 11m Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-07-07 11:30:20 +02:00 (CEST) Date last edited N/A

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